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CLDN4
Identifiers
Aliases	CLDN4, CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R, claudin 4
External IDs	OMIM: 602909; MGI: 1313314; GeneCards: CLDN4
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,832,690 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,975,788 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; right uterine tube; ; olfactory zone of nasal mucosa; ; skin of abdomen; ; skin of leg; ; minor salivary glands; ; rectum; ; left lobe of thyroid gland; ; mucosa of sigmoid colon; ; right lobe of thyroid gland;
	Top expressed in
	blastocyst; ; transitional epithelium of urinary bladder; ; lip; ; corneal stroma; ; saccule; ; otic placode; ; otic vesicle; ; submandibular gland; ; esophagus; ; duodenum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural molecule activity; transmembrane signaling receptor activity; identical protein binding; chloride channel activity; protein binding;
Cellular component	integral component of membrane; cell junction; basal plasma membrane; apicolateral plasma membrane; integral component of plasma membrane; apical plasma membrane; lateral plasma membrane; bicellular tight junction; membrane; plasma membrane; chloride channel complex;
Biological process	response to progesterone; female pregnancy; calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; circadian rhythm; establishment of skin barrier; signal transduction; chloride transport; renal absorption; chloride transmembrane transport; ion transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	1364
	12740
	ENSG00000189143
	ENSMUSG00000047501
	O14493
	O35054
	NM_001305
	NM_009903
	NP_001296
	NP_034033
	Wikidata
View/Edit Human	View/Edit Mouse

Claudin 4, also known as CLDN4, is a protein which in humans is encoded by the CLDN4 gene. It belongs to the group of claudins.

This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems.^[5]

Claudin 4 can also be used as a marker for distinguishing malignant mesothelioma from lung cancer and uterine serous carcinoma.^[6] As a pancreatic cancer marker in cell-blocks of effusion specimens, it has also been found to have a superior performance to BerEp4 staining.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000189143 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047501 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: CLDN4 claudin 4".
^ Ohta Y, Sasaki Y, Saito M, Kushima M, Takimoto M, Shiokawa A, Ota H (2013). "Claudin-4 as a marker for distinguishing malignant mesothelioma from lung carcinoma and serous adenocarcinoma". Int J Surg Pathol. 21 (5): 493–501. doi:10.1177/1066896913491320. PMID 23775021. S2CID 6840615.
^ Vojtek M, Walsh MD, Papadimos DJ, Shield PW (2019). "Claudin-4 immunohistochemistry is a useful pan-carcinoma marker for serous effusion specimens" (PDF). Cytopathology. 30 (6): 614–619. doi:10.1111/cyt.12765. PMID 31390089. S2CID 199468828.

External links

Human CLDN4 genome location and CLDN4 gene details page in the UCSC Genome Browser.

Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMC 11537529. PMID 10690502. S2CID 26473781.
Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307. S2CID 12132159.
Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726. S2CID 36524601.
Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
Katahira J, Inoue N, Horiguchi Y, et al. (1997). "Molecular cloning and functional characterization of the receptor for Clostridium perfringens enterotoxin". J. Cell Biol. 136 (6): 1239–47. doi:10.1083/jcb.136.6.1239. PMC 2132509. PMID 9087440.
Katahira J, Sugiyama H, Inoue N, et al. (1997). "Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo". J. Biol. Chem. 272 (42): 26652–8. doi:10.1074/jbc.272.42.26652. PMID 9334247.
Paperna T, Peoples R, Wang YK, et al. (1999). "Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion". Genomics. 54 (3): 453–9. doi:10.1006/geno.1998.5619. PMID 9878248.
Morita K, Furuse M, Fujimoto K, Tsukita S (1999). "Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 511–6. Bibcode:1999PNAS...96..511M. doi:10.1073/pnas.96.2.511. PMC 15167. PMID 9892664.
Itoh M, Furuse M, Morita K, et al. (2000). "Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins". J. Cell Biol. 147 (6): 1351–63. doi:10.1083/jcb.147.6.1351. PMC 2168087. PMID 10601346.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Colegio OR, Van Itallie C, Rahner C, Anderson JM (2003). "Claudin extracellular domains determine paracellular charge selectivity and resistance but not tight junction fibril architecture". Am. J. Physiol., Cell Physiol. 284 (6): C1346–54. doi:10.1152/ajpcell.00547.2002. PMID 12700140.
Katoh M, Katoh M (2004). "CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family". Int. J. Mol. Med. 11 (6): 683–9. doi:10.3892/ijmm.11.6.683. PMID 12736707.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
Michl P, Barth C, Buchholz M, et al. (2003). "Claudin-4 expression decreases invasiveness and metastatic potential of pancreatic cancer". Cancer Res. 63 (19): 6265–71. PMID 14559813.
Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res. 15 (2): 339–59. doi:10.1021/acs.jproteome.5b00769. PMC 4777318. PMID 26680015.
Ohta Y, Sasaki Y, Saito M, Kushima M, Takimoto M, Shiokawa A, Ota H (2013). "Claudin-4 as a marker for distinguishing malignant mesothelioma from lung carcinoma and serous adenocarcinoma". Int J Surg Pathol. 21 (5): 493–501. doi:10.1177/1066896913491320. PMID 23775021. S2CID 6840615.
Vojtek M, Walsh MD, Papadimos DJ, Shield PW (2019). "Claudin-4 immunohistochemistry is a useful pan-carcinoma marker for serous effusion specimens" (PDF). Cytopathology. 30 (6): 614–619. doi:10.1111/cyt.12765. PMID 31390089. S2CID 199468828.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000189143 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000047501 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: CLDN4 claudin 4".

[pmid23775021-6] Ohta Y, Sasaki Y, Saito M, Kushima M, Takimoto M, Shiokawa A, Ota H (2013). "Claudin-4 as a marker for distinguishing malignant mesothelioma from lung carcinoma and serous adenocarcinoma". Int J Surg Pathol. 21 (5): 493–501. doi:10.1177/1066896913491320. PMID 23775021. S2CID 6840615.

[VojtekWalsh2019-7] Vojtek M, Walsh MD, Papadimos DJ, Shield PW (2019). "Claudin-4 immunohistochemistry is a useful pan-carcinoma marker for serous effusion specimens" (PDF). Cytopathology. 30 (6): 614–619. doi:10.1111/cyt.12765. PMID 31390089. S2CID 199468828.

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CLDN4

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